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C3 c.4173-713G>C
Variant ID: 19-6682953-C-G
NM_000064.2(
C3
):c.4173-713G>C
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Abnormal Complement Activation and Inflammation in the Pathogenesis of Retinopathy of Prematurity.
Frontiers In Immunology
Rathi, Sonika S; Jalali, Subhadra S; Patnaik, Satish S; Shahulhameed, Shahna S; Musada, Ganeswara R GR; Balakrishnan, Divya D; Rani, Padmaja K PK; Kekunnaya, Ramesh R; Chhablani, Preeti Patil PP; Swain, Sarpras S; Giri, Lopamudra L; Chakrabarti, Subhabrata S; Kaur, Inderjeet I
Publication Date: 2017
Variant appearance in text: rs344550
PubMed Link:
29312345
Variant Present in the following documents:
Main text
fimmu-08-01868.pdf
View BVdb publication page
Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology.
Plos One
Drenos, Fotios F; Grossi, Enzo E; Buscema, Massimo M; Humphries, Steve E SE
Publication Date: 2015
Variant appearance in text: rs344550
PubMed Link:
25951190
Variant Present in the following documents:
Main text
pone.0125876.pdf
View BVdb publication page
Genetics of temporal lobe epilepsy: a review.
Epilepsy Research And Treatment
Salzmann, Annick A; Malafosse, Alain A
Publication Date: 2012
Variant appearance in text: rs344550
PubMed Link:
22957248
Variant Present in the following documents:
Main text
ERT2012-863702.pdf
View BVdb publication page
Interactions between dietary n-3 fatty acids and genetic variants and risk of disease.
The British Journal Of Nutrition
Corella, Dolores D; Ordovás, José M JM
Publication Date: 2012-06
Variant appearance in text: rs344550
PubMed Link:
22591901
Variant Present in the following documents:
Main text
View BVdb publication page
Polymorphisms in complement system genes and risk of non-Hodgkin lymphoma.
Environmental And Molecular Mutagenesis
Bassig, Bryan A BA; Zheng, Tongzhang T; Zhang, Yawei Y; Berndt, Sonja I SI; Holford, Theodore R TR; Hosgood, H Dean HD; Hu, Wei W; Leaderer, Brian B; Yeager, Meredith M; Menashe, Idan I; Boyle, Peter P; Xu, Jun J; Zou, Kaiyong K; Zhu, Yong Y; Chanock, Stephen S; Rothman, Nathaniel N; Lan, Qing Q
Publication Date: 2012-03
Variant appearance in text: rs344550
PubMed Link:
22170086
Variant Present in the following documents:
Main text
View BVdb publication page
Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.
Plos One
Jamali, Sarah S; Salzmann, Annick A; Perroud, Nader N; Ponsole-Lenfant, Magali M; Cillario, Jennifer J; Roll, Patrice P; Roeckel-Trevisiol, Nathalie N; Crespel, Ariel A; Balzar, Jorg J; Schlachter, Kurt K; Gruber-Sedlmayr, Ursula U; Pataraia, Ekaterina E; Baumgartner, Christoph C; Zimprich, Alexander A; Zimprich, Fritz F; Malafosse, Alain A; Szepetowski, Pierre P
Publication Date: 2010-09-16
Variant appearance in text: rs344550
PubMed Link:
20862287
Variant Present in the following documents:
Main text
pone.0012740.pdf
View BVdb publication page
Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15
Variant appearance in text: rs344550
PubMed Link:
19336475
Variant Present in the following documents:
ddp159_1.pdf
View BVdb publication page